Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.
Eur J Med Genet
; 63(1): 103619, 2020 Jan.
Article
en En
| MEDLINE
| ID: mdl-30690205
ABSTRACT
Birk Barel syndrome also known as KCNK9 imprinting syndrome is a rare developmental disorder associated with a loss-of-function variant in KCNK9, an imprinted gene with maternal expression on the 8th chromosome encoding the TASK3 (TWIK-related acidity inhibited K + -channel 3). Only two variants of KCNK9 have been associated with this condition before, both of them leading to the same amino-acid exchange p.Gly236Arg (Barel, 2008, Graham, 2016). We describe a case of a 17-year-old girl presenting with very similar phenotype and pure motor neuropathy with a novel variant c.710Câ¯>â¯A p.Ala237Asp (NM_001282534.1) in KCNK9 found by whole exome sequencing. Our case suggests that Birk Barel syndrome may not be caused only by variants leading to amino-acid exchange p.Gly236Arg but also by other missense variant in this gene and that peripheral motor neuropathy might be a feature of this syndrome.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Impresión Genómica
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Anomalías Craneofaciales
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Predisposición Genética a la Enfermedad
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Canales de Potasio de Dominio Poro en Tándem
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Discapacidad Intelectual
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Hipotonía Muscular
Límite:
Adolescent
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Female
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Humans
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Male
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article